基于熵和支持向量机的病态嗓音识别

为了更好地分析实际短数据带噪的病态嗓音信号,利用近年来提出的样本熵、多尺度熵、模糊熵和分层熵的方法来提取嗓音的熵特征参数,并借鉴分层分解方法,提出分层多尺度熵和分层模糊熵,分别对测试集39例正常嗓音和36例病态嗓音进行支持向量机（SVM）识别。实验结果表明：三层分层熵、分层多尺度熵、分层模糊熵的识别率和稳定性均较分层前有提高。在耗时较短的情况下,提取2 000点病理嗓音数据的6种熵特征都能达到较好且较稳定的识别率。提取2 000点病理嗓音数据的三层分层模糊熵特征,能得到较好且较稳定的SVM识别率97.33%,较分层前的模糊熵特征识别率提高约4.00%。熵分析方法可推进病态嗓音研究向临床的应用,为临床分析诊断实时、短数据的带噪病理嗓音提供一定的参考。     

Mll3 Genetic Variants Affect Risk of Gastric Cancer in the Chinese Han Population

It is reported that the expression level of MLL3 in gastric cancer tissue highly correlates with tumorprogression. However, whether MLL3 genetic variants are associated with the risk of gastric cancer remainsunclear. In this study, we conducted a genotyping analysis for MLL3 in 314 cases of gastric cancer and 322controls from the Chinese Han population. 4 SNPs (rs6943984, rs4725443, rs3800836, rs6464211) were selectedfor the present analysis. We found 2 SNPs (rs6943984, rs4725443) of MLL3 gene were significantly associatedwith the risk of gastric cancer : the rs6943984 with the minor allele A and rs4725443 with the minor allele Crevealed strong associations with increased gastric cancer risk [P < 0.001, OR = 1.97, 95% CI = 1.48~2.64 andP <0.001, OR = 2.23, 95% CI = 1.54~3.24]. Haplotype analysis of the four SNPs showed that haplotype A-T-A-C,G-T-G-C, and G-C-A-C increased the risk of gastric cancer (P <0.001, P=0.18, and P<0.001, respectively), whilehaplotype G-T–A-C significantly reduced the risk of gastric cancer (P <0.001). We concluded that MLL3 variantsare significantly associated with gastric cancer risk. Our results for the first time provided new insight intosusceptibility factors of MLL3 gene variants in carcinogenesis of gastric cancer of the Chinese Han population.     

Schistosomiasis Combined with Colorectal Carcinoma Diagnosed Based on Endoscopic Findings and Clinicopathological Characteristics: A Report on 32 Cases

Aims and Background: To improve understanding of the relationship between schistosome-related enteropathyand colorectal carcinoma with particular focus on endoscopic findings and clinicopathological characteristics ofcolonic schistosomiasis. Materials and Methods: All cases of intestinal schistosomiasis diagnosed at West ChinaHospital, Chengdu, China, between October 2006 and October 2012 were included in this study. A total of 179cases of colonic schistosomiasis diagnosed through colonoscopy and pathological examinations were collectedfor analysis and the demographics, symptoms, endoscopic findings and clinicopathological characteristics wereretrospectively evaluated. Results: Of the 179 colonic schistosomiasis patients, 32 combined with colorectalcancer (CRC) were found, between the ages of 44 and 85 years (24 males, 75%). These 32 lesions were classifiedas 12 endophytic/ulcerative (37.5%), 10 exophytic/fungating (31.2%), 4 annular (12.5%), 3 giant polypus (9.4%),and 3 Ⅱc (superficial depressed type) (9.4%). The segments of rectum and sigmoid colon were involved in 19patients (59.4%) and 6 patients (18.8%), respectively. The histopathologic types were classified as follows: 30 welldifferentiatedadenocarcinomas, one mucinous adenocarcinoma and one poorly differentiated adenocarcinoma.The pathological findings suggest colorectal malignancy with deposited schistosome ova. Conclusions: Chronicschistosomal infestation has a probable etiological role in promoting genesis of colorectal neoplasms.     

脑缺血合并高脂血症模型大鼠脑组织的病理改变

背景：大多数脑缺血是在高血压、高脂血症、糖尿病等基础病变条件下发生的。因此,构建高脂血症复合脑缺血大鼠模型,研究基础性病变对脑缺血的影响具有重要意义。 目的：观察高脂血症复合脑缺血大鼠模型脑组织病理学改变,及其高脂血症病理因素对脑缺血的影响。 方法：实验以高脂饲料喂养大鼠制备高脂血症大鼠模型,然后线栓法制备局灶性脑缺血大鼠模型,建模成功后3,7 d,采用TTC染色的方法,观察各组大鼠脑组织缺血部位体积,苏木精-伊红染色观察各组大鼠脑组织缺血边缘区组织病理学改变,透射电镜观察各组大鼠脑组织缺血边缘区细胞超微结构改变。 结果与结论：TTC染色结果显示高脂+脑缺血7 d组大鼠的脑缺血部位体积明显减小。苏木精-伊红染色结果显示所有脑缺血模型都呈典型的缺血性改变,脑缺血7 d的小胶质细胞数量比3 d的明显减少,高脂+脑缺血7d相对于3 d的变化更明显。超微结构显示所有脑缺血模型的神经元和胶质细胞核膜皱缩,线粒体嵴基本完全消失,内皮细胞线粒体减少,神经突触的突触小泡大部分溶解,缺血7 d,尤其是高脂+脑缺血7 d的上述损伤减轻,神经元变性、坏死减少,线粒体损伤恢复,线粒体嵴也明显增多,神经突触的突触小泡明显恢复。说明高脂血症促进了脑缺血损伤的恢复,其原因可能是高脂血症因素激活了体内某种保护机制。     

Meta-analysis of ALDH2 variants and esophageal cancer in Asians

Alcohol drinking is considered a risk factor for esophageal cancer, and exposure to high levels of acetaldehyde, the principal metabolite of alcohol, may be responsible. Individuals homozygous for the *2 variant allele of aldehyde dehydrogenase 2 (ALDH2) are unable to metabolize acetaldehyde, which prevents them from alcohol drinking, whereas those with *1/*2 have a 6-fold higher blood acetaldehyde concentration postalcohol consumption with respect to *1*1. We carried out a meta-analysis of ALDH2 and esophageal cancer searching for relevant studies on Asians in Medline and EMbase up to May 2011, and investigated the association between this genotype variation and esophageal cancer risk. A total of 2,697 cases and ,6344 controls were retained for the analysis. The pooled OR (95% CI) for ALDH2*1/*2 was 2.47 (95%CI: 1.76-3.46) compared with ALDH2*1/*1. ALDH2*2/*2 showed a non-significant decreased risk for esophageal cancer with OR of 0.6 (0.26-1.38). ALDH2*1/*2 individuals showed a higher risk of esophageal cancer among moderate and heavy alcohol users [2.17(1.95-2.43) and 3.20(2.78-3.70), respectively]. Moderate drinkers with ALDH2*2/*2 showed strong esophageal cancer risk [OR(95%CI)=8.52(3.81-19.04)] compared with ALDH2*1/*1 carriers among heavy drinkers than non-drinkers and moderate drinkers (OR=7.05). Our finding showed that ALDH2*1/*2 genotype increases the risk of esophageal cancer, while the ALDH2*2/*2 genotype reduces the risk, presumably preventing people from consumption due to discomfort. Drinking clearly modifies the effect of ALDH2 on esophageal cancer risk in Asians.     

深圳地区当地与外来人员乳腺癌BRCA2基因突变的比较

探讨深圳地区当地与外来人员乳腺癌易感基因2(BRCA2)基因突变的发生率及突变位点的差异。方法选择乳腺癌患者202例,其中深圳地区当地人员(研究组)64例,深圳地区外来人员(对照组)138例。采用PCR/DNA测序法检测2组BRCA2基因突变发生率及突变位点,同时比较2组病理组织分类。结果研究组存在BRCA2基因突变的有15例(23.4%),对照组存在BRCA2基因突变的有34例(24.6%),2组BRCA2基因突变发生率比较差异无统计学意义(P>0.05)。2组均检测到同一种BRCA2基因突变(EXON11f第910碱基T被C取代)。研究组7例(46.6%)乳腺癌BRCA2基因突变主要病理类型为导管原位癌,对照组8例(44.2%)乳腺癌BRCA2基因突变主要病理类型为浸润性导管癌。结论深圳地区当地与外来人员乳腺癌BRCA2基因突变发生率及突变位点相似,但病理组织类型存在差异。     

Testing for genetic association: a powerful score test

To study the association between a candidate gene and a complex genetic disease, Pearson's chi(2) statistic can be applied to an m x 2 contingency table, where the m categories correspond to m haplotypes or marker alleles. For m>2, two alternative approaches for Pearson's chi(2) can be followed, which are more powerful if one haplotype or marker allele is associated. For the first approach, various 2 x 2 tables are formed by combining various categories and the maximum of the corresponding chi-square statistics is considered as the final statistic. The second approach takes the average over the possible associated categories by writing down an overall likelihood. For the latter approach, we propose a new score statistic, which gives more weight to haplotypes or marker alleles that are common. Since the disease allele is often not observed, the power of the various statistics depends on both the linkage disequilibrium pattern and the frequencies of the associated haplotype or marker allele in the cases and the controls. We heuristically compare various statistics within the two approaches and present the results of a simulation that compares the performance of all considered statistics. Finally, we apply the statistics to a case-control study on the association between COL2A1 gene and radiographic osteoarthritis. Our conclusion is that overall the new proposed score statistic has good power. Copyright (c) 2008 John Wiley & Sons, Ltd.     

RUNX3蛋白在肝癌组织中的表达及其意义

目的探讨RUNX3蛋白在肝癌组织及其癌旁组织中的表达情况,并分析其与临床病理因素的相关性。方法采用免疫组织化学法检测RUNX3蛋白在肝癌组织及其癌旁组织中的表达水平,并分析其与临床病理因素的相关性。结果 RUNX3蛋白在肝癌组织、癌旁组织中的表达阳性率分别为49.02%(25/51)、82.35%(42/51),两者间有显著差异(χ2=12.5706,P<0.01)。RUNX3蛋白在分化程度、门静脉癌栓、肝内转移等病理因素的表达差异有统计学意义(P<0.05),而在性别、肿瘤直径、肿瘤部位、癌肿出血坏死、组织分型的表达差异无统计学意义(P>0.05)。结论 RUNX3蛋白在肝癌组织中的表达水平明显低于癌旁组织。RUNX3蛋白表达下调可能对肝癌的发生、发展具有重要作用,RUNX3基因可能是肝癌的抑癌基因。     

Tumor expression of calcium sensing receptor and colorectal cancer survival: Results from the nurses’ health study and health professionals follow‐up study

Although experimental evidence suggests calcium‐sensing receptor (CASR) as a tumor‐suppressor, the prognostic role of tumor CASR expression in colorectal carcinoma remains unclear. We hypothesized that higher tumor CASR expression might be associated with improved survival among colorectal cancer patients. We evaluated tumor expression levels of CASR by immunohistochemistry in 809 incident colorectal cancer patients within the Nurses' Health Study and the Health Professionals Follow‐up Study. We used Cox proportional hazards regression models to estimate multivariable hazard ratio (HR) for the association of tumor CASR expression with colorectal cancer‐specific and all‐cause mortality. We adjusted for potential confounders including tumor biomarkers such as microsatellite instability, CpG island methylator phenotype, LINE‐1 methylation level, expressions of PTGS2, VDR and CTNNB1 and mutations of KRAS, BRAF and PIK3CA. There were 240 colorectal cancer‐specific deaths and 427 all‐cause deaths. The median follow‐up of censored patients was 10.8 years (interquartile range: 7.2, 15.1). Compared with patients with no or weak expression of CASR, the multivariable HRs for colorectal cancer‐specific mortality were 0.80 [95% confidence interval (CI): 0.55–1.16] in patients with moderate CASR expression and 0.50 (95% CI: 0.32–0.79) in patients with intense CASR expression (p‐trend = 0.003). The corresponding HRs for overall mortality were 0.85 (0.64–1.13) and 0.81 (0.58–1.12), respectively. Higher tumor CASR expression was associated with a lower risk of colorectal cancer‐specific mortality. This finding needs further confirmation and if confirmed, may lead to better understanding of the role of CASR in colorectal cancer progression.